Article
Partial monosomy of chromosome 1p36.3: characterization of the critical region and delineation of a syndrome.
American journal of medical genetics - 4 Dec 1995
Reish O, Berry S A, Hirsch B
Abstract excerpt
We describe 5 patients ranging in age from 3 to 47 years, with karyotypic abnormalities resulting in monosomy for portion of 1p36.3, microcephaly, mental retardation, prominent forehead, deep-set eyes, depressed nasal bridge, flat midface, relative prognathism, and abnormal ears. Four patients ha...
Topics
- Abnormalities, Multiple
- Adult
- Child
- Child, Preschool
- Chromosome Banding
- Chromosomes, Human, Pair 1
- Female
- Humans
- Male
- Middle Aged
- Monosomy
- Phenotype
- Syndrome